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Browsing by Author Wijk, E. van

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Showing results 1 to 19 of 19
Full TextIssue DateTitleAuthor(s)
2011Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retinaOverlack, N.; Kilic, D.; Bauss, K.; Marker, T.; Kremer, J.M.J., et al
2010Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.Schraders, M.; Oostrik, J.; Huygen, P.L.M.; Strom, T.M.; Wijk, E. van, et al
2010Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse originAller, E.; Jaijo, T.; Wijk, E. van; Ebermann, I.; Kersten, F.F.J., et al
2010Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.Kersten, F.F.J.; Wijk, E. van; Reeuwijk, J. van; Zwaag, B. van der; Marker, T., et al
2008A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.Maerker, T.; Wijk, E. van; Overlack, N.; Kersten, F.F.J.; McGee, J., et al
2007MPP1 links the Usher protein network and the Crumbs protein complex in the retina.Gosens, I.; Wijk, E. van; Kersten, F.F.J.; Krieger, E.; Zwaag, B. van der, et al
2007Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K., et al
2007MPP1 links the Usher protein network and the Crumbs protein complex in the retina.Gosens, I.; Wijk, E. van; Kersten, F.F.J.; Krieger, E.; Zwaag, B. van der, et al
2007Development of a genotyping microarray for Usher syndrome.Cremers, F.P.M.; Kimberling, W.J.; Kulm, M.; Brouwer, A.P.M. de; Wijk, E. van, et al
2006The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.Wijk, E. van; Zwaag, B. van der; Peters, T.A.; Zimmermann, U.; Brinke, H. te, et al
2006Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R.W.J., et al
2006Cochleovestibular and ocular features in a Dutch DFNA11 family.Bischoff, A.M.L.C.; Pennings, R.J.E.; Huygen, P.L.M.; Luijendijk, M.W.J.; Wijk, E. van, et al
2006Usher syndrome: molecular links of pathogenesis, proteins and pathways.Kremer, H.; Wijk, E. van; Marker, T.; Wolfrum, U.; Roepman, R.
2005Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.Reiners, J.; Wijk, E. van; Marker, T.; Zimmermann, U.; Jurgens, K., et al
2004Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.Wijk, E. van; Pennings, R.J.E.; Brinke, H. te; Claassen, A.M.W.; Yntema, H.G., et al
2004A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.Kemperman, M.H.; Leenheer, E. de; Huygen, P.L.M.; Wijk, E. van; Duijnhoven, G.C.F. van, et al
2004Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M., et al
2004Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M., et al
2004Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.Stinckens, C.I.C.; Kremer, J.M.J.; Wijk, E. van; Hoefsloot, L.H.; Huygen, P.L.M., et al
Showing results 1 to 19 of 19

 

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